A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy
In a 28-year-old man with myopathy and phosphorylase kinase (PhK) deficiency, we found a G-to-C substitution at the 5' end of an intron in the muscle-specific alpha-subunit gene. The mutation destroys the high-consensus GT sequences at the 5' splice junction of the intron, which causes ski...
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| Veröffentlicht in: | Biochemical and biophysical research communications 1998-08, Vol.249 (3), p.648-651 |
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| container_title | Biochemical and biophysical research communications |
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| creator | Bruno, C Manfredi, G Andreu, A L Shanske, S Krishna, S Ilse, W K DiMauro, S |
| description | In a 28-year-old man with myopathy and phosphorylase kinase (PhK) deficiency, we found a G-to-C substitution at the 5' end of an intron in the muscle-specific alpha-subunit gene. The mutation destroys the high-consensus GT sequences at the 5' splice junction of the intron, which causes skipping of the preceding exon. This is the second molecular genetic defect identified in the myopathic variant of PhK deficiency. |
| doi_str_mv | 10.1006/bbrc.1998.9211 |
| format | Article |
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| fulltext | fulltext |
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| ispartof | Biochemical and biophysical research communications, 1998-08, Vol.249 (3), p.648-651 |
| issn | 0006-291X |
| language | eng |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | Adult Base Sequence DNA - genetics DNA Primers - genetics Exercise Tolerance Humans Introns Male Muscles - enzymology Muscular Diseases - enzymology Muscular Diseases - genetics Muscular Diseases - physiopathology Myoglobinuria - enzymology Myoglobinuria - genetics Phosphorylase Kinase - chemistry Phosphorylase Kinase - deficiency Phosphorylase Kinase - genetics Point Mutation Polymerase Chain Reaction Protein Conformation RNA Splicing - genetics |
| title | A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy |
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